Human Molecular Genetics

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice
pp. 1201-1213(13)
Authors: Kobuke, Kazuhiro; Piccolo, Federica; Garringer, Keith W.; Moore, Steven A.; Sweezer, Eileen; Yang, Baoli; Campbell, Kevin P.

Mannosidase I inhibition rescues the human -sarcoglycan R77C recurrent mutation
pp. 1214-1221(8)
Authors: Bartoli, Marc; Gicquel, Evelyne; Barrault, Laetitia; Soheili, Tayebeh; Malissen, Marie; Malissen, Bernard; Vincent-Lacaze, Nathalie; Perez, Norma; Udd, Bjarne; Danos, Olivier; Richard, Isabelle

Brachydactyly type A2 associated with a defect in proGDF5 processing
pp. 1222-1233(12)
Authors: Plger, Frank; Seemann, Petra; Schmidt-von Kegler, Mareen; Lehmann, Katarina; Seidel, Jrg; Kjaer, Klaus W.; Pohl, Jens; Mundlos, Stefan

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders
pp. 1234-1244(11)
Authors: Mercader, Josep Maria; Saus, Ester; Agera, Zaida; Bays, Mnica; Boni, Claudette; Carreras, Anna; Cellini, Elena; de Cid, Rafael; Dierssen, Mara; Escarams, Gergia; Fernndez-Aranda, Fernando; Forcano, Laura; Gallego, Xavier; Gonzlez, Juan Ramn; Gorwood, Philip; Hebebrand, Johannes; Hinney, Anke; Nacmias, Benedetta; Puig, Anna; Ribass, Marta; Ricca, Valdo; Romo, Lucia; Sorbi, Sandro; Versini, Audrey; Gratacs, Mnica; Estivill, Xavier

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity
pp. 1245-1252(8)
Authors: Ebbing, Bettina; Mann, Klaudiusz; Starosta, Agata; Jaud, Johann; Schls, Ludger; Schle, Rebecca; Woehlke, Gnther

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder
pp. 1253-1263(11)
Authors: Choesmel, Valrie; Fribourg, Sbastien; Aguissa-Tour, Almass-Houd; Pinaud, Nol; Legrand, Pierre; Gazda, Hanna T.; Gleizes, Pierre-Emmanuel

Activation of -catenin signaling by Rspo1 controls differentiation of the mammalian ovary
pp. 1264-1277(14)
Authors: Chassot, Anne-Amandine; Ranc, Fariba; Gregoire, Elodie P.; Roepers-Gajadien, Hermien L.; Taketo, Makoto M.; Camerino, Giovanna; de Rooij, Dirk G.; Schedl, Andreas; Chaboissier, Marie-Christine

R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling
pp. 1278-1291(14)
Authors: Tomizuka, Kazuma; Horikoshi, Kaori; Kitada, Rina; Sugawara, Yuriko; Iba, Yumi; Kojima, Ayako; Yoshitome, Akiko; Yamawaki, Kengo; Amagai, Mikiko; Inoue, Ayano; Oshima, Takeshi; Kakitani, Makoto

Targeted mRNA degradation by complex-mediated delivery of antisense RNAs to intracellular human mitochondria
pp. 1292-1298(7)
Authors: Mukherjee, Saikat; Mahata, Bidesh; Mahato, Biraj; Adhya, Samit

Geneenvironment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection
pp. 1299-1305(7)
Authors: Baird, Paul N.; Robman, Luba D.; Richardson, Andrea J.; Dimitrov, Peter N.; Tikellis, Gabriella; McCarty, Catherine A.; Guymer, Robyn H.

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline
pp. 1306-1317(12)
Authors: Dion, Vincent; Lin, Yunfu; Hubert, Leroy; Waterland, Robert A.; Wilson, John H.

Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in casecontrol and family datasets
pp. 1318-1328(11)
Authors: Sutton, Beth S.; Crosslin, David R.; Shah, Svati H.; Nelson, Sarah C.; Bassil, Anthony; Hale, A. Brent; Haynes, Carol; Goldschmidt-Clermont, Pascal J.; Vance, Jeffery M.; Seo, David; Kraus, William E.; Gregory, Simon G.; Hauser, Elizabeth R.

A common SNP of MCPH1 is associated with cranial volume variation in Chinese population
pp. 1329-1335(7)
Authors: Wang, Jin-kai; Li, Yi; Su, Bing

Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk
pp. 1336-1348(13)
Authors: Chen, Xiaowei; Weaver, JoEllen; Bove, Betsy A.; Vanderveer, Lisa A.; Weil, Susan C.; Miron, Alexander; Daly, Mary B.; Godwin, Andrew K.